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CDH23 Gene

protein-coding   GIFtS: 63
GCID: GC10P073156

Cadherin-Related 23

(Previous names: cadherin related 23, cadherin-like 23)
(Previous symbols: DFNB12, USH1D)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Cadherin-Related 231 2     CDHR232
USH1D1 2 5     cadherin-232
Cadherin-Like 231 2     otocadherin2
Cadherin-Related Family Member 231 2     KIAA17743
DFNB121     KIAA18123
Cadherin Related 231     Otocadherin3

External Ids:    HGNC: 137331   Entrez Gene: 640722   Ensembl: ENSG000001077367   OMIM: 6055165   UniProtKB: Q9H2513   

Export aliases for CDH23 gene to outside databases

Previous GC identifers: GC10P071942 GC10P072260 GC10P073049 GC10P072501 GC10P072826 GC10P067150


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for CDH23 Gene:
This gene is a member of the cadherin superfamily, whose genes encode calcium dependent cell-cell adhesion
glycoproteins. The encoded protein is thought to be involved in stereocilia organization and hair bundle
formation. The gene is located in a region containing the human deafness loci DFNB12 and USH1D. Usher syndrome 1D
and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of this cadherin-like gene.
Upregulation of this gene may also be associated with breast cancer. Alternative splice variants encoding
different isoforms have been described. (provided by RefSeq, May 2013)

GeneCards Summary for CDH23 Gene:
CDH23 (cadherin-related 23) is a protein-coding gene. Diseases associated with CDH23 include usher syndrome, type 1d/f digenic, and deafness, autosomal recessive 12. GO annotations related to this gene include calcium ion binding.

UniProtKB/Swiss-Prot: CAD23_HUMAN, Q9H251
Function: Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in
a homophilic manner in connecting cells. CDH23 is required for establishing and/or maintaining the proper
organization of the stereocilia bundle of hair cells in the cochlea and the vestibule during late embryonic/early
postnatal development. It is part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates
mechanotransduction in cochlear hair cells. Required for normal hearing

Gene Wiki entry for CDH23 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000010.11  NT_030059.14  NC_018921.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CDH23 gene promoter:
         Max1   AML1a   AP-4   c-Ets-1   GATA-1   CREB   deltaCREB   LHX3a/Lhx3a   SEF-1 (1)   RSRFC4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCDH23 promoter sequence
   Search Chromatin IP Primers for CDH23

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CDH23


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 10q22.1   Ensembl cytogenetic band:  10q22.1   HGNC cytogenetic band: 10q22.1

CDH23 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CDH23 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10P073156:  view genomic region     (about GC identifiers)

Start:
73,156,691 bp from pter      End:
73,575,704 bp from pter
Size:
419,014 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: CAD23_HUMAN, Q9H251 (See protein sequence)
Recommended Name: Cadherin-23 precursor  
Size: 3354 amino acids; 369494 Da
Subunit: antiparallel heterodimer with PCDH15 (By similarity). Interacts with USH1C and USH1G
3 PDB 3D structures from and Proteopedia for CDH23:
2KBR (3D)        2KBS (3D)        2LSR (3D)    
Secondary accessions: C4IXS9 F6U049 Q5QGS1 Q5QGS2 Q5QGS5 Q5QGS6 Q5XKN2 Q6UWW1 Q96JL3 Q9H4K9
Alternative splicing: 11 isoforms:  Q9H251-1   Q9H251-2   Q9H251-3   Q9H251-4   Q9H251-5   Q9H251-6   Q9H251-7   Q9H251-8   
Q9H251-9   Q9H251-10   Q9H251-11   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CDH23: NX_Q9H251

Explore proteomics data for CDH23 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn155, Asn206, Asn349, Asn393, Asn434, Asn466, Asn472, Asn652, Asn694, Asn765,
                                 Asn810, Asn827, Asn941, Asn1001, Asn1018, Asn1171, Asn1282, Asn1315, Asn1473, Asn1534 (see all 41)
  • Modification sites at PhosphoSitePlus

  • See CDH23 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (9 alternative transcripts): 
    NP_001165401.1  NP_001165402.1  NP_001165403.1  NP_001165404.1  NP_001165405.1  NP_001165406.1  NP_001165407.1  NP_071407.4  
    NP_443068.1  

    ENSEMBL proteins: 
     ENSP00000473454   ENSP00000299366   ENSP00000224721   ENSP00000473539   ENSP00000388894  
     ENSP00000381789   ENSP00000381822   ENSP00000381768  

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    Novus Biologicals CDH23 Proteins
    Novus Biologicals CDH23 Lysate
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    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for CDH23

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    ThermoFisher Antibodies for CDH23
    LSBio Antibodies in human, mouse, rat for CDH23

    CDH23 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for CDH23
    Cloud-Clone Corp. CLIAs for CDH23


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    CDHR: Cadherins / Cadherin-related

    3 InterPro protein domains:
     IPR015919 Cadherin-like
     IPR020894 Cadherin_CS
     IPR002126 Cadherin

    Graphical View of Domain Structure for InterPro Entry Q9H251

    ProtoNet protein and cluster: Q9H251

    1 Blocks protein domain: IPB002126 Cadherin

    UniProtKB/Swiss-Prot: CAD23_HUMAN, Q9H251
    Domain: Three calcium ions are usually bound at the interface of each cadherin domain and rigidify the
    connections, imparting a strong curvature to the full-length ectodomain (By similarity)
    Domain: Cadherin repeats 1 and 2 mediate calcium-dependent heterophilic interaction with PCDH15 (By similarity)
    Similarity: Contains 27 cadherin domains


    CDH23 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CAD23_HUMAN, Q9H251
    Function: Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in
    a homophilic manner in connecting cells. CDH23 is required for establishing and/or maintaining the proper
    organization of the stereocilia bundle of hair cells in the cochlea and the vestibule during late embryonic/early
    postnatal development. It is part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates
    mechanotransduction in cochlear hair cells. Required for normal hearing

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005509calcium ion binding IEA--
    GO:0005515protein binding IPI12485990
         
    CDH23 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for CDH23:
     Decreased POU5F1-GFP protein e 

         11 MGI mutant phenotypes (inferred from 23 alleles(MGI details for Cdh23):
     adipose tissue  behavior/neurological  cardiovascular system  digestive/alimentary  growth/size/body 
     hearing/vestibular/ear  homeostasis/metabolism  integument  nervous system  reproductive system 
     vision/eye 

    CDH23 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Cdh23tm1.2Ugds for CDH23

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CDH23
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CDH23
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CDH23

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    hsa-miR-3927 hsa-miR-214* hsa-miR-296-5p
    SwitchGear 3'UTR luciferase reporter plasmidCDH23 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat CDH23

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    GenScript: all cDNA clones in your preferred vector (see all 9): CDH23 (NM_022124)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CDH23
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CDH23

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CDH23


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CAD23_HUMAN, Q9H251: Cell membrane; Single-pass type I membrane protein (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    cytoskeleton2
    extracellular2
    mitochondrion2
    nucleus1
    peroxisome1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane IEA--
    GO:0016020membrane NAS11138009
    GO:0016021integral component of membrane IEA--
    GO:0032420stereocilium ISS12485990

    CDH23 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for CDH23 About    
    See pathways by source

    SuperPathContained pathways About
    1Nanog in Mammalian ESC Pluripotency
    GSK3 Signaling0.61
    2ERK Signaling
    ILK Signaling0.49
    3WNT Signaling
    WNT Signaling
    4S-1P Stimulated Signaling
    S-1P Stimulated Signaling
    5G12-G13 in Cellular Signaling
    G12-G13 in Cellular Signaling

    5 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for CDH23
        S-1P Stimulated Signaling
    ILK Signaling
    GSK3 Signaling
    G12-G13 in Cellular Signaling
    WNT Signaling


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CDH23
    Interactions:

        GeneGlobe Interaction Network for CDH23

    STRING Interaction Network Preview (showing 5 interactants - click image to see 13)

    Selected Interacting proteins for CDH23 (Q9H2512, 3 ENSP000003818224) via UniProtKB, MINT, STRING, and/or I2D (see all 15)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    USH1CQ9Y6N93, ENSP000000052264I2D: score=4 STRING: ENSP00000005226
    MYO7AQ134023, ENSP000003863314I2D: score=1 STRING: ENSP00000386331
    PCDH15ENSP000003549504STRING: ENSP00000354950
    MYO1CENSP000003528344STRING: ENSP00000352834
    MAGI2ENSP000003461514STRING: ENSP00000346151
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006816calcium ion transport IMP17234811
    GO:0007156homophilic cell adhesion IEA--
    GO:0007601visual perception IEA--
    GO:0007605sensory perception of sound IMP15537665
    GO:0016339calcium-dependent cell-cell adhesion NAS11138009

    CDH23 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CDH23 (CAD23)

    1 HMDB Compound for CDH23    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--

    1 Novoseek inferred chemical compound relationship for CDH23 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    calcium 0 11 12522556 (5), 18384968 (2), 15829536 (1)



    CDH23 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for CDH23 gene (9 alternative transcripts): 
    NM_001171930.1  NM_001171931.1  NM_001171932.1  NM_001171933.1  NM_001171934.1  NM_001171935.1  NM_001171936.1  NM_022124.5  
    NM_052836.3  

    Unigene Cluster for CDH23:

    Cadherin-related 23
    Hs.656032  [show with all ESTs]
    Unigene Representative Sequence: NM_022124
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000461841 ENST00000299366(uc001jry.3) ENST00000224721(uc001jrz.3 uc001jrx.4)
    ENST00000466757 ENST00000470494 ENST00000442677 ENST00000398792(uc001jsc.1)
    ENST00000475158(uc001jsi.4) ENST00000398809(uc001jrw.4 uc021psl.1)
    ENST00000398842(uc001jrv.3 uc009xql.3) ENST00000398788(uc001jsg.4 uc001jsh.4 uc001jsj.4 uc010qjr.2)

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    3 qRT-PCR Assays for microRNAs that regulate CDH23:
    hsa-miR-3927 hsa-miR-214* hsa-miR-296-5p
    SwitchGear 3'UTR luciferase reporter plasmidCDH23 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AB053445.1 AB058715.1 AF312024.1 AK074160.1 AK093818.1 AL122081.1 AY010111.2 AY358617.1 
    AY563161.1 AY563162.1 AY563165.1 AY563166.1 BC011570.1 BC032581.1 BC065284.1 BC108254.1 
    BC136976.1 BC136977.1 BC139903.1 

    17 DOTS entries:

    DT.91789641  DT.40217027  DT.406132  DT.99953776  DT.121260680  DT.97836532  DT.121260671  DT.97840186 
    DT.40264815  DT.95195633  DT.121260556  DT.99945820  DT.121260547  DT.102842881  DT.306196  DT.95179205 
    DT.99968758 

    Selected AceView cDNA sequences (see all 74):

    NM_022124 BQ636152 BM683136 CA394561 AB053445 BM474675 AB058715 AF312024 
    BX645395 AY010111 BX280626 BM723166 BM706931 BM673126 AK093818 BF883760 
    AY358617 CK301159 BM672907 BU599584 BU623813 BM739008 BM686924 CD631208 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for CDH23 (see all 11)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^
    SP1:                                                                          -                       -                                                         
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                          -                                                                                 

    ExUns: 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31a · 31b ^ 32 ^ 33 ^ 34 ^ 35 ^ 36 ^ 37 ^ 38 ^ 39 ^ 40 ^ 41 ^ 42 ^ 43 ^ 44 ^ 45 ^ 46 ^ 47 ^ 48a ·
    SP1:                                                                                                                                                            
    SP2:                                            -                                                                                                           -   
    SP3:                                            -                                                                                                           -   
    SP4:                                                                                                                                                        -   
    SP5:                                                                                                                                                            

    ExUns: 48b · 48c ^ 49 ^ 50 ^ 51 ^ 52a · 52b
    SP1:                                          
    SP2:        -                                 
    SP3:        -                 -               
    SP4:        -                 -               
    SP5:                                          


    ECgene alternative splicing isoforms for CDH23

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    CDH23 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAGACCCCCC
    CDH23 Expression
    About this image


    CDH23 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Blood (Hematopoietic System)
             Monocytes Peripheral Blood
     
     Neural Tube (Nervous System)
             Telencephalon
     
     Brain (Nervous System)
             Hypothalamus
     
     Eye (Sensory Organs)
    CDH23 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CDH23 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.656032

    UniProtKB/Swiss-Prot: CAD23_HUMAN, Q9H251
    Tissue specificity: Particularly strong expression in the retina. Found also in the cochlea

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for CDH23 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cdh231 , 5 cadherin 23 (otocadherin)1, 5 88.07(n)1
    94.48(a)1
      10 (30.11 cM)5
    222951  NM_023370.31  NP_075859.21 
     603027485 
    chicken
    (Gallus gallus)
    Aves CDH231 cadherin-related 23 77.93(n)
    80.29(a)
      423718  XM_421595.4  XP_421595.3 
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia cdh231 cadherin-related 23 64.99(n)
    68.46(a)
      100493009  XM_002939519.2  XP_002939565.2 
    zebrafish
    (Danio rerio)
    Actinopterygii cdh231 cadherin-like 23 66.8(n)
    68.04(a)
      407978  NM_214809.1  NP_999974.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Cad74A3 calcium-dependent cell-cell adhesion
    calcium-dependent more
    29(a)
    (best of 5)
        --
    worm
    (Caenorhabditis elegans)
    Secernentea cdh-126
    Protein CDH-12 (cdh-12) mRNA, complete cds
    5(a)
    1 ↔ 1
    III(1152044-1181143) WBGene00022103


    ENSEMBL Gene Tree for CDH23 (if available)
    TreeFam Gene Tree for CDH23 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CDH23 gene
    15 SIMAP similar genes for CDH23 using alignment to 11 protein entries:     CAD23_HUMAN (see all proteins):
    FLJ00233    DKFZp434P2350    FAT3    PCDH1    ME1    ME5
    ME3    CELSR1    FAT4    PCDHGA6    CDH22    FAT1
    ME2    CELSR2    DSC2

    CDH23 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CDH23 (see all 9976)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1219083541,2,,4
    CDeafness, autosomal recessive, 12 (DFNB12)4 pathogenic173704187(+) CCTGCC/TTTACA 10 P L mis10--------
    rs1432824221,2,,4
    C,FUsher syndrome 1D (USH1D)4 --73750654(+) GCTTTG/ACCCTT 10 /T /A mis11Minor allele frequency- A:0.02EU 591
    rs412813101,2,,4
    C,FUsher syndrome 1D (USH1D)4 --73845617(+) TGACAA/GCCGGC 4 N S mis13Minor allele frequency- G:0.01NA EU 573
    rs412813141,2,,4
    C,FUsher syndrome 1D (USH1D)4 unknown173863393(+) TGTTCA/GCACAG 4 T A mis15Minor allele frequency- G:0.18NA WA CSA 125
    VAR_0240344
    Usher syndrome 1D (USH1D)4--see VAR_0240342 S F mis40--------
    VAR_0121884
    Deafness, autosomal recessive, 12 (DFNB12)4--see VAR_0121882 R C mis40--------
    VAR_0464324
    Usher syndrome 1D (USH1D)4--see VAR_0464322 T I mis40--------
    VAR_0121784
    Usher syndrome 1D (USH1D)4--see VAR_0121782 R Q mis40--------
    VAR_0273194
    Deafness, autosomal recessive, 12 (DFNB12)4--see VAR_0273192 N S mis40--------
    VAR_0273294
    Deafness, autosomal recessive, 12 (DFNB12)4--see VAR_0273292 E K mis40--------

    HapMap Linkage Disequilibrium report for CDH23 (73156691 - 73406691 bp, first 250kb of CDH23)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for CDH23 (see all 37):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1096295CNV Deletion17803354
    esv1648968CNV Deletion17803354
    esv2738328CNV Deletion23290073
    esv2676562CNV Deletion23128226
    esv4865CNV Deletion18987735
    esv2658220CNV Deletion23128226
    esv2677320CNV Deletion23128226
    esv2738317CNV Deletion23290073
    esv2672656CNV Deletion23128226
    esv2343384CNV Deletion18987734

    Human Gene Mutation Database (HGMD): CDH23
    Locus Specific Mutation Databases (LSDB): CDH23

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 605516   
    OMIM disorders: 601067  601386  
    UniProtKB/Swiss-Prot: CAD23_HUMAN, Q9H251
  • Usher syndrome 1D (USH1D) [MIM:601067]: USH is a genetically heterogeneous condition characterized by the
    association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and
    vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome
    type 3 (USH3). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function
    and prepubertal onset of progressive retinitis pigmentosa leading to blindness. Note=The disease is caused by
    mutations affecting the gene represented in this entry
  • Usher syndrome 1D/F (USH1DF) [MIM:601067]: USH1DF patients are heterozygous for mutations in CDH23 and
    PCDH15, indicating a digenic inheritance pattern. Note=The disease is caused by mutations affecting distinct
    genetic loci, including the gene represented in this entry
  • Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386]: A form of non-syndromic sensorineural hearing
    loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to
    the brain, or the area of the brain that receives sound information. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • Selected diseases for CDH23 (see all 26):    
    About MalaCards
    usher syndrome, type 1d/f digenic    deafness, autosomal recessive 12    dfnb12 nonsyndromic hearing loss and deafness    usher syndrome, type 1d
    usher syndrome type 1g    usher syndrome    usher syndrome type i    usher syndrome type 3
    deafness, autosomal recessive 76    nonsyndromic hearing loss and deafness, autosomal recessive    nonsyndromic hearing loss and deafness    deafness and hereditary hearing loss
    bardet-biedl syndrome    nonsyndromic deafness    retinal degeneration    retinal disease
    breast cancer    sensorineural hearing loss    retinitis    vitiligo

    4 diseases from the University of Copenhagen DISEASES database for CDH23:
    Usher syndrome     Nonsyndromic deafness     Retinitis pigmentosa     Sensorineural hearing loss

    CDH23 for disorders           About GeneDecksing

    3 Novoseek inferred disease relationships for CDH23 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    usher syndrome 96 19 18429043 (3), 18273900 (2), 11138009 (1), 16288196 (1) (see all 12)
    hearing loss noise-induced 68.3 4 14648237 (1), 18348277 (1), 16598924 (1)
    retinal degeneration 54.5 4 19756182 (1)

    GeneTests: CDH23
    GeneReviews: CDH23
    Genetic Association Database (GAD): CDH23
    Human Genome Epidemiology (HuGE) Navigator: CDH23 (9 documents)

    Export disorders for CDH23 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for CDH23 gene, integrated from 10 sources (see all 98):
    (articles sorted by number of sources associating them with CDH23)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population. (PubMed id 15660226)1, 2, 4, 9 Ouyang X.M.... Liu X.Z. (Hum. Genet. 2005)
    2. Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23. (PubMed id 11090341)1, 2, 3, 9 Bork J.M.... Morell R.J. (Am. J. Hum. Genet. 2001)
    3. Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family. (PubMed id 12522556)1, 2, 9 de Brouwer A.P.M.... Kremer H. (Hum. Genet. 2003)
    4. Distribution and frequencies of CDH23 mutations in Japanese patients with non-syndromic hearing loss. (PubMed id 17850630)1, 2, 9 Wagatsuma M.... Usami S. (Clin. Genet. 2007)
    5. Mutation profile of the CDH23 gene in 56 probands with Usher syndrome type I. (PubMed id 18429043)1, 2, 9 Oshima A.... Kimberling W.J. (Hum. Mutat. 2008)
    6. Assembling stable hair cell tip link complex via multidentate interactions between harmonin and cadherin 23. (PubMed id 19297620)1, 2, 9 Pan L.... Zhang M. (Proc. Natl. Acad. Sci. U.S.A. 2009)
    7. Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D. (PubMed id 11138009)1, 2, 9 Bolz H.... Kubisch C. (Nat. Genet. 2001)
    8. Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%. (PubMed id 16679490)1, 2, 9 Roux A.-F....Claustres M. (J. Med. Genet. 2006)
    9. Modification of human hearing loss by plasma-membrane calcium pump PMCA2. (PubMed id 15829536)1, 2, 9 Schultz J.M.... Griffith A.J. (N. Engl. J. Med. 2005)
    10. Genome-wide association scan for five major dimensions of personality. (PubMed id 18957941)1, 4, 9 Terracciano A....Costa P.T. (Mol. Psychiatry 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 64072 HGNC: 13733 AceView: CDH23 Ensembl:ENSG00000107736 euGenes: HUgn64072
    ECgene: CDH23 H-InvDB: CDH23

    (According to HUGE)
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    HUGE: KIAA1774 KIAA1812

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for CDH23 Pharmacogenomics, SNPs, Pathways
    Mutations of the CDH23 genehttp://www.retina-international.org/files/sci-news/cdh23mut.htm
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=CDH23[genesymbol]

    (Patent information from GeneIP,
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    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CDH23 gene:
    Search GeneIP for patents involving CDH23

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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